A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196791



Internal ID22346747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50299809..50299882hg38UCSC Ensembl
chr14:50766527..50766600hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430358
SamplesHG00514
Known GenesL2HGDH
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196791
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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